Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population

J. S. Wainscoat, S. Work, M. Sampietro, M. D. Cappellini, G. Fiorelli, S. Terzoli, D. J. Weatherall

Research output: Contribution to journalArticle

Abstract

A feasibility study of prenatal diagnosis of β thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous β thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava IIψβ polymorphism increased this figure to 23/25 (92%) of the families.

Original languageEnglish
Pages (from-to)495-500
Number of pages6
JournalBritish Journal of Haematology
Volume62
Issue number3
Publication statusPublished - 1986

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Thalassemia
Prenatal Diagnosis
Restriction Fragment Length Polymorphisms
DNA
Population
Feasibility Studies
Chromosomes
Parents

ASJC Scopus subject areas

  • Hematology

Cite this

Wainscoat, J. S., Work, S., Sampietro, M., Cappellini, M. D., Fiorelli, G., Terzoli, S., & Weatherall, D. J. (1986). Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population. British Journal of Haematology, 62(3), 495-500.

Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population. / Wainscoat, J. S.; Work, S.; Sampietro, M.; Cappellini, M. D.; Fiorelli, G.; Terzoli, S.; Weatherall, D. J.

In: British Journal of Haematology, Vol. 62, No. 3, 1986, p. 495-500.

Research output: Contribution to journalArticle

Wainscoat, JS, Work, S, Sampietro, M, Cappellini, MD, Fiorelli, G, Terzoli, S & Weatherall, DJ 1986, 'Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population', British Journal of Haematology, vol. 62, no. 3, pp. 495-500.
Wainscoat, J. S. ; Work, S. ; Sampietro, M. ; Cappellini, M. D. ; Fiorelli, G. ; Terzoli, S. ; Weatherall, D. J. / Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population. In: British Journal of Haematology. 1986 ; Vol. 62, No. 3. pp. 495-500.
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